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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 26400

FusionGeneSummary for PDE4D_EFNA5

check button Fusion gene summary
Fusion gene informationFusion gene name: PDE4D_EFNA5
Fusion gene ID: 26400
HgeneTgene
Gene symbol

PDE4D

EFNA5

Gene ID

5144

1946

Gene namephosphodiesterase 4Dephrin A5
SynonymsACRDYS2|DPDE3|HSPDE4D|PDE43|PDE4DN2|STRK1AF1|EFL5|EPLG7|GLC1M|LERK7|RAGS
Cytomap

5q11.2-q12.1

5q21.3

Type of geneprotein-codingprotein-coding
DescriptioncAMP-specific 3',5'-cyclic phosphodiesterase 4DcAMP-specific phosphodiesterase PDE4D6phosphodiesterase 4D, cAMP-specific (phosphodiesterase E3 dunce homolog, Drosophila)testicular tissue protein Li 136ephrin-A5AL-1LERK-7eph-related receptor tyrosine kinase ligand 7
Modification date2018051920180523
UniProtAcc

Q08499

P52803

Ensembl transtripts involved in fusion geneENST00000340635, ENST00000360047, 
ENST00000507116, ENST00000502484, 
ENST00000546160, ENST00000502575, 
ENST00000358923, ENST00000503258, 
ENST00000405755, ENST00000317118, 
ENST00000503947, 
ENST00000333274, 
ENST00000509503, ENST00000510359, 
Fusion gene scores* DoF score23 X 14 X 10=32204 X 2 X 3=24
# samples 344
** MAII scorelog2(34/3220*10)=-3.24345403686428
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/24*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PDE4D [Title/Abstract] AND EFNA5 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgenePDE4D

GO:0006198

cAMP catabolic process

9371713|17404263

TgeneEFNA5

GO:0006915

apoptotic process

11870224

TgeneEFNA5

GO:0022407

regulation of cell-cell adhesion

11870224

TgeneEFNA5

GO:0022604

regulation of cell morphogenesis

23242526

TgeneEFNA5

GO:0032956

regulation of actin cytoskeleton organization

11870224

TgeneEFNA5

GO:0043087

regulation of GTPase activity

11870224

TgeneEFNA5

GO:0048013

ephrin receptor signaling pathway

11870224

TgeneEFNA5

GO:0051893

regulation of focal adhesion assembly

11870224

TgeneEFNA5

GO:0070507

regulation of microtubule cytoskeleton organization

11870224

TgeneEFNA5

GO:1900025

negative regulation of substrate adhesion-dependent cell spreading

23242526


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVSKCMTCGA-EE-A2M7-06APDE4Dchr5

58476421

-EFNA5chr5

106763210

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
Frame-shiftENST00000340635ENST00000333274PDE4Dchr5

58476421

-EFNA5chr5

106763210

-
Frame-shiftENST00000340635ENST00000509503PDE4Dchr5

58476421

-EFNA5chr5

106763210

-
5CDS-intronENST00000340635ENST00000510359PDE4Dchr5

58476421

-EFNA5chr5

106763210

-
Frame-shiftENST00000360047ENST00000333274PDE4Dchr5

58476421

-EFNA5chr5

106763210

-
Frame-shiftENST00000360047ENST00000509503PDE4Dchr5

58476421

-EFNA5chr5

106763210

-
5CDS-intronENST00000360047ENST00000510359PDE4Dchr5

58476421

-EFNA5chr5

106763210

-
Frame-shiftENST00000507116ENST00000333274PDE4Dchr5

58476421

-EFNA5chr5

106763210

-
Frame-shiftENST00000507116ENST00000509503PDE4Dchr5

58476421

-EFNA5chr5

106763210

-
5CDS-intronENST00000507116ENST00000510359PDE4Dchr5

58476421

-EFNA5chr5

106763210

-
Frame-shiftENST00000502484ENST00000333274PDE4Dchr5

58476421

-EFNA5chr5

106763210

-
Frame-shiftENST00000502484ENST00000509503PDE4Dchr5

58476421

-EFNA5chr5

106763210

-
5CDS-intronENST00000502484ENST00000510359PDE4Dchr5

58476421

-EFNA5chr5

106763210

-
Frame-shiftENST00000546160ENST00000333274PDE4Dchr5

58476421

-EFNA5chr5

106763210

-
Frame-shiftENST00000546160ENST00000509503PDE4Dchr5

58476421

-EFNA5chr5

106763210

-
5CDS-intronENST00000546160ENST00000510359PDE4Dchr5

58476421

-EFNA5chr5

106763210

-
Frame-shiftENST00000502575ENST00000333274PDE4Dchr5

58476421

-EFNA5chr5

106763210

-
Frame-shiftENST00000502575ENST00000509503PDE4Dchr5

58476421

-EFNA5chr5

106763210

-
5CDS-intronENST00000502575ENST00000510359PDE4Dchr5

58476421

-EFNA5chr5

106763210

-
intron-3CDSENST00000358923ENST00000333274PDE4Dchr5

58476421

-EFNA5chr5

106763210

-
intron-3CDSENST00000358923ENST00000509503PDE4Dchr5

58476421

-EFNA5chr5

106763210

-
intron-intronENST00000358923ENST00000510359PDE4Dchr5

58476421

-EFNA5chr5

106763210

-
Frame-shiftENST00000503258ENST00000333274PDE4Dchr5

58476421

-EFNA5chr5

106763210

-
Frame-shiftENST00000503258ENST00000509503PDE4Dchr5

58476421

-EFNA5chr5

106763210

-
5CDS-intronENST00000503258ENST00000510359PDE4Dchr5

58476421

-EFNA5chr5

106763210

-
Frame-shiftENST00000405755ENST00000333274PDE4Dchr5

58476421

-EFNA5chr5

106763210

-
Frame-shiftENST00000405755ENST00000509503PDE4Dchr5

58476421

-EFNA5chr5

106763210

-
5CDS-intronENST00000405755ENST00000510359PDE4Dchr5

58476421

-EFNA5chr5

106763210

-
intron-3CDSENST00000317118ENST00000333274PDE4Dchr5

58476421

-EFNA5chr5

106763210

-
intron-3CDSENST00000317118ENST00000509503PDE4Dchr5

58476421

-EFNA5chr5

106763210

-
intron-intronENST00000317118ENST00000510359PDE4Dchr5

58476421

-EFNA5chr5

106763210

-
5UTR-3CDSENST00000503947ENST00000333274PDE4Dchr5

58476421

-EFNA5chr5

106763210

-
5UTR-3CDSENST00000503947ENST00000509503PDE4Dchr5

58476421

-EFNA5chr5

106763210

-
5UTR-intronENST00000503947ENST00000510359PDE4Dchr5

58476421

-EFNA5chr5

106763210

-

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FusionProtFeatures for PDE4D_EFNA5


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PDE4D

Q08499

EFNA5

P52803

Cell surface GPI-bound ligand for Eph receptors, afamily of receptor tyrosine kinases which are crucial formigration, repulsion and adhesion during neuronal, vascular andepithelial development. Binds promiscuously Eph receptors residingon adjacent cells, leading to contact-dependent bidirectionalsignaling into neighboring cells. The signaling pathway downstreamof the receptor is referred to as forward signaling while thesignaling pathway downstream of the ephrin ligand is referred toas reverse signaling. Induces compartmentalized signaling within acaveolae-like membrane microdomain when bound to the extracellulardomain of its cognate receptor. This signaling event requires theactivity of the Fyn tyrosine kinase. Activates the EPHA3 receptorto regulate cell-cell adhesion and cytoskeletal organization. Withthe receptor EPHA2 may regulate lens fiber cells shape andinteractions and be important for lens transparency maintenance.May function actively to stimulate axon fasciculation. Theinteraction of EFNA5 with EPHA5 also mediates communicationbetween pancreatic islet cells to regulate glucose-stimulatedinsulin secretion. Cognate/functional ligand for EPHA7, theirinteraction regulates brain development modulating cell-celladhesion and repulsion. {ECO:0000269|PubMed:10601038,ECO:0000269|PubMed:11870224}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for PDE4D_EFNA5


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for PDE4D_EFNA5


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
PDE4DPDE4DIP, PDE4D, AKAP6, GNB2L1, ARRB1, MDM2, ITSN1, ARRB2, PPP3CA, PPP3CB, PPP3R1, GSK3B, CSNK1A1, CDK2, PAFAH1B1, PRKACA, APP, LYN, SRC, FYN, ABL1, GRB2, PIAS4, MAPK1, BIN1, HDGFRP2, ZBTB1, MAGEA6, TRAF1, COIL, GOLGA8EP, GOLGA8F, ZDHHC17, SPTAN1, PIK3R1, TRIM23, ITPKB, PFKFB2, AKAP12, ATOH1, DUSP13, PDE4B, TRIM25EFNA5EPHA7, EPHA3, EPHB1, SRC, GRIP1, MYC, EPHA8, GJB7, CYP2S1, MED21


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for PDE4D_EFNA5


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgenePDE4DQ08499DB00651DyphyllinecAMP-specific 3',5'-cyclic phosphodiesterase 4Dsmall moleculeapproved
HgenePDE4DQ08499DB01656RoflumilastcAMP-specific 3',5'-cyclic phosphodiesterase 4Dsmall moleculeapproved
HgenePDE4DQ08499DB01088IloprostcAMP-specific 3',5'-cyclic phosphodiesterase 4Dsmall moleculeapproved|investigational
HgenePDE4DQ08499DB05266IbudilastcAMP-specific 3',5'-cyclic phosphodiesterase 4Dsmall moleculeapproved|investigational
HgenePDE4DQ08499DB05676ApremilastcAMP-specific 3',5'-cyclic phosphodiesterase 4Dsmall moleculeapproved|investigational

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RelatedDiseases for PDE4D_EFNA5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePDE4DC3553250ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE4UNIPROT
HgenePDE4DC0011581Depressive disorder3PSYGENET
HgenePDE4DC0004096Asthma2CTD_human
HgenePDE4DC0011570Mental Depression2PSYGENET
HgenePDE4DC0033578Prostatic Neoplasms1CTD_human
HgenePDE4DC0036341Schizophrenia1PSYGENET
HgenePDE4DC0236733Amphetamine-Related Disorders1CTD_human
TgeneEFNA5C0035126Reperfusion Injury1CTD_human